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  • BMJ  (16)
  • 2020-2024  (16)
  • 1
    In: Annals of the Rheumatic Diseases, BMJ, Vol. 79, No. 11 ( 2020-11), p. 1492-1499
    Abstract: To collect clinical information and NOD2 mutation data on patients with Blau syndrome and to evaluate their prognosis. Methods Fifty patients with NOD2 mutations were analysed. The activity of each NOD2 mutant was evaluated in HEK293 cells by reporter assay. Clinical information was collected from medical records through the attending physicians. Results The study population comprised 26 males and 24 females aged 0–61 years. Thirty-two cases were sporadic, and 18 were familial from 9 unrelated families. Fifteen different mutations in NOD2 were identified, including 2 novel mutations (p.W490S and D512V); all showed spontaneous nuclear factor kappa B activation, and the most common mutation was p.R334W. Twenty-six patients had fever at relatively early timepoints in the disease course. Forty-three of 47 patients had a skin rash. The onset of disease in 9 patients was recognised after BCG vaccination. Forty-five of 49 patients had joint lesions. Thirty-eight of 50 patients had ocular symptoms, 7 of which resulted in blindness. After the diagnosis of Blau syndrome, 26 patients were treated with biologics; all were antitumour necrosis factor agents. Only 3 patients were treated with biologics alone; the others received a biologic in combination with methotrexate and/or prednisolone. None of the patients who became blind received biologic treatment. Conclusions In patients with Blau syndrome, severe joint contractures and blindness may occur if diagnosis and appropriate treatment are delayed. Early treatment with a biologic agent may improve the prognosis.
    Type of Medium: Online Resource
    ISSN: 0003-4967 , 1468-2060
    RVK:
    Language: English
    Publisher: BMJ
    Publication Date: 2020
    detail.hit.zdb_id: 1481557-6
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  • 2
    In: Thorax, BMJ, Vol. 77, No. 2 ( 2022-02), p. 143-153
    Abstract: Some patients with idiopathic interstitial pneumonia (IIP) show autoimmune features. Interstitial pneumonia with autoimmune features (IPAF) was recently proposed as a research concept in these patients. However, retrospective studies reported conflicting results of its prognosis. Therefore, this study was conducted to prospectively evaluate the clinical significance of autoimmune features in patients with IIP. Methods This nationwide multicentre study prospectively enrolled consecutive patients with IIP. At the diagnosis, we systematically evaluated 63 features suggestive of connective tissue diseases using a checklist including symptoms/signs and autoantibodies, which contained most items of the IPAF criteria and followed up with the patients. Clinical phenotypes were included in a cluster analysis. Results In 376 patients with IIP enrolled, 70 patients (18.6%) met the IPAF criteria. The proportion of patients with IPAF was significantly lower in idiopathic pulmonary fibrosis (IPF) than in non-IPF (6.0% vs 24.3%, respectively). During a median observation period of 35 months, patients with IPAF more frequently developed systemic autoimmune diseases and had less frequent acute exacerbation of IIPs than patients with non-IPAF. IPAF diagnosis was significantly associated with better survival and was an independent positive prognostic factor in total and patients with non-IPF. Cluster analysis by similarity of clinical phenotypes identified a cluster in which there was a higher number of women, and patients had more autoimmune features and a better prognosis than other clusters. Interpretation These observations suggest that some patients with IIP show autoimmune features with distinct characteristics and favourable prognosis. However, we were not able to determine the appropriate therapies for these patients.
    Type of Medium: Online Resource
    ISSN: 0040-6376 , 1468-3296
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 1481491-2
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  • 3
    In: Heart, BMJ, Vol. 108, No. 3 ( 2022-02), p. 178-185
    Abstract: The clinical significance of ECG abnormalities during atrial fibrillation (AF) rhythm is poorly understood. The aim of the current study was to explore the impact of inverted T wave on cardiac prognosis in patients with AF. Methods The current study enrolled 2709 patients with AF whose baseline ECG was available from a Japanese community-based prospective survey, the Fushimi AF Registry, and the impact of inverted T wave in baseline ECG at AF rhythm on the composite of cardiac death, myocardial infarction and hospitalisation due to heart failure was examined. Results Intraventricular conduction delay, ST segment depression and inverted T wave were observed in 15.8%, 24.7% and 41.4% of baseline ECG with a mean heart rate of 94.7 beats per minute. The median follow-up duration was 5.0 years. The incidence rate of the composite cardiac endpoint was significantly higher in patients with inverted T wave than those without (5.8% vs 3.3% per patient-year, log-rank p 〈 0.01). The higher risk associated with inverted T wave was consistent even for individual components of the composite cardiac endpoint. By multivariable analysis, inverted T wave was an independent predictor of the composite cardiac endpoint (HR 1.53, 95% CI 1.26 to 1.85, p 〈 0.01). Inverted T wave was detected in 15.7% at anterior leads, 19.8% at inferior leads and 26.6% at lateral leads. The location of inverted T wave was not associated with risk of composite cardiac endpoint. Conclusions Inverted T wave was commonly observed in patients with AF and its presence during AF rhythm was associated with subsequent cardiac events.
    Type of Medium: Online Resource
    ISSN: 1355-6037 , 1468-201X
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 2378689-9
    detail.hit.zdb_id: 1475501-4
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  • 4
    In: BMJ Open Sport & Exercise Medicine, BMJ, Vol. 9, No. 2 ( 2023-04), p. e001467-
    Abstract: Among the 43 venues of Tokyo 2020 Olympic Games (OG) and 33 venues of Paralympic Games (PG) were held, the heat island effect was highly expected to cause heat-related illnesses in the outdoor venues with maximum temperatures exceeding 35°C. However, the actual number of heat-related illness cases during the competition was lower than that was initially expected, and it was unclear under what conditions or environment-related heat illnesses occurred among athletes. Object To clarify the cause and factors contributing to the occurrence of heat-related illness among athletes participating in the Tokyo 2020 Olympic and Paralympic Games. Method This retrospective descriptive study included 15 820 athletes from 206 countries. From 21 July 2021 to 8 August 2021 for the Olympics, and from 24 August 2021 to 5 September 2021 for the Paralympics. The number of heat-related illness cases at each venue, the incidence rate for each event, gender, home continent, as well as the type of competition, environmental factors (such as venue, time, location and wet-bulb globe temperature (WBGT)), treatment factor and the type of competition were analysed. Results More number of heat-related illnesses among athletes occurred at the OG (n=110, 76.3%) than at the PG (n=36, 23.7%). A total of 100 cases (100%) at the OG and 31 cases (86.1%) at the PG occurred at the outdoors venues. In the OG, a total of 50 cases (57.9%) occurred during the competition of marathon running and race walking at Sapporo Odori Park. Six of those, were diagnosed with exertional heat illness and treated with cold water immersion (CWI) at OG and one case at PG. Another 20 cases occurred in athletics (track and field) competitions at Tokyo National Olympic Stadium. In total, 10 cases (10.0%) were diagnosed with severe heat illness in the OG and 3 cases (8.3%) in the PG. Ten cases were transferred to outside medical facilities for further treatment, but no case has been hospitalised due to severe condition. In the factor analysis, venue zone, outdoor game, high WBGT ( 〈 28°C) and endurance sports have been found to have a higher risk of moderate and severe heat-related illness (p 〈 0.05). The incidence rate and severity could be attenuated by proper heat-related illness treatment (CWI, ice towel, cold IV transfusion and oral hydration) reduced the severity of the illness, providing summer hot environment sports. Conclusion The Tokyo 2020 Olympic and Paralympic summer games were held. Contrary to expectations, we calculated that about 1 in 100 Olympic athletes suffered heat-related illness. We believe this was due to the risk reduction of heat-related illness, such as adequate prevention and proper treatment. Our experience in avoiding heat-related illness will provide valuable data for future Olympic summer Games.
    Type of Medium: Online Resource
    ISSN: 2055-7647
    Language: English
    Publisher: BMJ
    Publication Date: 2023
    detail.hit.zdb_id: 2817580-3
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  • 5
    Online Resource
    Online Resource
    BMJ ; 2022
    In:  BMJ Case Reports Vol. 15, No. 3 ( 2022-03), p. e246533-
    In: BMJ Case Reports, BMJ, Vol. 15, No. 3 ( 2022-03), p. e246533-
    Abstract: Exacerbation of rheumatic disease after vaccination against SARS-CoV-2 is being reported. However, there are only a few cases of new-onset rheumatic diseases. We present two cases of new-onset persistent polyarthritis that developed in patients after receiving the mRNA vaccine against SARS-CoV-2. One patient had bilateral pleural effusions with markedly elevated serum interferon (IFN)-β, while the other had no effusion, with serum IFN-β comparable with that in healthy subjects. Other cytokines were unaltered in association with effusion. Both patients responded well to treatment with 20 mg prednisolone. Although more investigations are needed, the marked increase in serum IFN-β levels observed in the case with pleural effusion may reflect an excessive response from the innate immune system to mRNA vaccines.
    Type of Medium: Online Resource
    ISSN: 1757-790X
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 2467301-8
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  • 6
    In: BMJ Open, BMJ, Vol. 10, No. 9 ( 2020-09), p. e038623-
    Abstract: Familial hypercholesterolaemia (FH) is an autosomal-dominant inherited genetic disease. It carries an extremely high cardiovascular risk associated with significantly elevated low-density lipoprotein (LDL) cholesterol. The diagnostic rate of this disease in some European nations is quite high, due to the presence of multiple prospective registries. On the other hand, few data—and in particular multicentre data—exist regarding this issue among Japanese subjects. Therefore, this study intends to assemble a multicentre registry that aims to comprehensively assess cardiovascular risk among Japanese FH patients while taking into account their genetic backgrounds. Methods and analysis The Hokuriku-plus FH registry is a prospective, observational, multicentre cohort study, enrolling consecutive FH patients who fulfil the clinical criteria of FH in Japan from 37 participating hospitals mostly in Hokuriku region of Japan from April 2020 to March 2024. A total of 1000 patients will be enrolled into the study, and we plan to follow-up participants over 5 years. We will collect clinical parameters, including lipids, physical findings, genetic backgrounds and clinical events covering atherosclerotic and other important events, such as malignancies. The primary endpoint of this study is new atherosclerotic cardiovascular disease (ASCVD) events. The secondary endpoints are as follows: LDL cholesterol, secondary ASCVD events and the occurrence of other diseases including hypertension, diabetes and malignancies. Ethics and dissemination This study is being conducted in compliance with the Declaration of Helsinki, the Ethical Guidelines for Medical and Health Research Involving Human Subjects, and all other applicable laws and guidelines in Japan. This study protocol has been approved by the Institutional Review Board at Kanazawa University. We will disseminate the final results at international conferences and in a peer-reviewed journal. Trial registration number UMIN000038210.
    Type of Medium: Online Resource
    ISSN: 2044-6055 , 2044-6055
    Language: English
    Publisher: BMJ
    Publication Date: 2020
    detail.hit.zdb_id: 2599832-8
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  • 7
    In: BMJ Open Diabetes Research & Care, BMJ, Vol. 8, No. 1 ( 2020-01), p. e000901-
    Abstract: Declining healthy life expectancy due to functional disability is relevant and urgent because of its association with decreased quality of life and also for its enormous socioeconomic impact. The aim of this study is to examine the impact of diabetes, hypertension, dyslipidemia and physical activity habits on functional disability among community-dwelling Japanese adults. Research design and methods This is a population-based retrospective cohort study including 9673 people aged 39–98 years in Japan (4420, men). Functional disability was defined as a condition meeting Japan’s new long-term care insurance certification requirements for the need of assistance in the activities of daily living whether by caregivers or assistive devices. Cox proportional-hazards regression model identified variables related to functional disability. Results Median follow-up was 3.7 years. During the study period, 165 disabilities occurred in the overall study population. Multivariate analysis showed that diabetes (HR 1.74 (95% CI 1.12 to 2.68)) and no physical activity habit (HR 1.83 (1.27 to 2.65)) presented increased risks for disability. HR for disability increased with the number of risk factors (HR of individuals with four conditions, 3.96 (1.59 to 9.99) vs individuals with none of those conditions as a reference). HR for disability among patients with diabetes with and without a physical activity habit was 1.68 (0.70 to 4.04) and 3.19 (1.79 to 5.70), respectively, compared with individuals without diabetes with a physical activity habit. Conclusions The combination of diabetes and lack of habitual physical activity is predictive of functional disability in Japanese. Habitual physical activity attenuates the risk of functional disability in patients with diabetes.
    Type of Medium: Online Resource
    ISSN: 2052-4897
    Language: English
    Publisher: BMJ
    Publication Date: 2020
    detail.hit.zdb_id: 2732918-5
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  • 8
    In: BMJ Neurology Open, BMJ, Vol. 4, No. 2 ( 2022-08), p. e000296-
    Abstract: Posterior reversible encephalopathy syndrome (PRES) is a disease characterised by reversible subcortical vasogenic oedema, neurological symptoms and abnormal findings on head imaging. It is recognised as one of the most prominent organ disorders in hypertensive emergencies but is rarely associated with thrombotic microangiopathy (TMA). Case presentation A woman in her 40s with untreated hypertension had occasional headaches in the past 4 months. The headaches worsened during the 3 weeks prior to admission. On the day of admission, the patient presented with severe headache accompanied by frequent vomiting. MRI of the head revealed oedematous changes in the brainstem, including the subcortical, cerebellum and pons. Fundus examination revealed hypertensive retinopathy with papilloedema. Blood tests indicated thrombocytopenia, renal dysfunction and haemolytic anaemia, and a blood smear confirmed fragmented erythrocytes. Coombs’ test, and tests for ADAMTS13 activity and infectious and autoimmune diseases were negative. The patient was diagnosed with PRES, secondary to malignant hypertension (MH) and associated with TMA. Antihypertensive therapy promptly improved the clinical symptoms, blood pressure, and the abnormal MRI and blood test findings. The patient was discharged from the hospital 20 days after admission. Conclusions We report a rare case of PRES that was associated with TMA and triggered by MH. Antihypertensive therapy was effective in alleviating the associated adverse clinical symptoms. Differentiation of underlying diseases is essential for early intervention, since treatment depends on factors causing TMA.
    Type of Medium: Online Resource
    ISSN: 2632-6140
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 3001578-9
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  • 9
    In: BMJ Open Respiratory Research, BMJ, Vol. 9, No. 1 ( 2022-09), p. e001337-
    Abstract: Diffuse pulmonary ossification is a specific lung condition that is accompanied by underlying diseases. However, idiopathic dendriform pulmonary ossification (IDPO) is extremely rare, and the clinical features remain unclear. In this study, we aimed to report the clinical characteristics of IDPO. Methods We conducted a nationwide survey of patients with IDPO from 2017 to 2019 in Japan and evaluated the clinical, radiological, and histopathological findings of patients diagnosed with IDPO. Results Twenty-two cases of IDPO were identified. Most subjects (82%) were male, aged 22–56 years (mean (SD), 37.9 (9.1)) at diagnosis. Nearly 80% of the subjects were asymptomatic, and the condition was discovered during a medical check-up. However, 36% of the subjects showed a decline in forced vital capacity (%FVC) predicted 〈 80% at diagnosis. The typical radiological features of high-resolution CT (HRCT) are calcified branching structures that are predominantly distributed in the lower lung fields without any other conspicuous finding. Histopathological analysis also showed dendriform ossified lesions from the intraluminal areas to interstitial areas. Notably, during the follow-up period of 20 years, disease progression was found in 88% on HRCT and more than 50% on pulmonary function tests (FVC and/or forced expiratory volume in 1 s). Two cases with rapid decline of 10% /year in %FVC predicted were observed. )) at diagnosis. Nearly 80% of the subjects were asymptomatic, and the condition was discovered during a medical check-up. However, 36% of the subjects showed a decline in forced vital capacity (%FVC) predicted 〈 80% at diagnosis. The typical radiological features of high-resolution CT (HRCT) are calcified branching structures that are predominantly distributed in the lower lung fields without any other conspicuous finding. Histopathological analysis also showed dendriform ossified lesions from the intraluminal areas to interstitial areas. Notably, during the follow-up period of 20 years, disease progression was found in 88% on HRCT and more than 50% on pulmonary function tests (FVC and/or forced expiratory volume in 1 s). Two cases with rapid decline of 10% /year in %FVC predicted were observed. Conclusions IDPO develops at a young age with gradually progressive phenotype. Further research and long-term ( 〉 20 years) follow-up are required to clarify the pathogenesis and clinical findings in IDPO.
    Type of Medium: Online Resource
    ISSN: 2052-4439
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 2736454-9
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  • 10
    Online Resource
    Online Resource
    BMJ ; 2023
    In:  BMJ Case Reports Vol. 16, No. 1 ( 2023-01), p. e254482-
    In: BMJ Case Reports, BMJ, Vol. 16, No. 1 ( 2023-01), p. e254482-
    Type of Medium: Online Resource
    ISSN: 1757-790X
    Language: English
    Publisher: BMJ
    Publication Date: 2023
    detail.hit.zdb_id: 2467301-8
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